Inherited propionyl-Coa carboxylase deficiency in "ketotic hyperglycinemia"
about
Genetics of propionic acidemia in a Mennonite-Amish kindredFood intolerance in humansSuccinyl-CoA: 3-ketoacid CoA-transferase deficiency. A cause for ketoacidosis in infancy[13C]Valine metabolism in methylmalonicacidemia using nuclear magnetic resonance: propinonate as an obligate intermediate.An alteration in glucose metabolism associated with a defect in ketone body metabolismCloning of functional alpha propionyl CoA carboxylase and correction of enzyme deficiency in pccA fibroblastsUnequal synthesis and differential degradation of propionyl CoA carboxylase subunits in cells from normal and propionic acidemia patients.Long-term sex-biased correction of circulating propionic acidemia disease markers by adeno-associated virus vectors.Genetic complementation of propionyl-CoA carboxylase deficiency in cultured human fibroblasts.The biotin-dependent carboxylase deficienciesBiochemical differences between mutant propionyl-CoA carboxylases from two complementation groups.Absence of cross-reacting material in isolated propionyl CoA carboxylase deficiency: nature of residual carboxylating activityReevaluating the hype: four bacterial metabolites under scrutiny.Heterozygote expression in propionyl coenzyme A carboxylase deficiency. Differences between major complementation groupsTowards the development of an enzyme replacement therapy for the metabolic disorder propionic acidemia.Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation.An introduction to gas chromatography-mass spectrometry and the inherited organic acidemias.Assignment of the alpha and beta chains of human propionyl-CoA carboxylase to genetic complementation groupsShort-term rescue of neonatal lethality in a mouse model of propionic acidemia by gene therapy.Propionyl-CoA carboxylase deficiency: case report, effect of low-protein diet and identification of 3-oxo-2-methylvaleric acid 3-hydroxy-2-methylvaleric acid, and maleic acid in urine.Propionic acidaemia: a neuropathological study of two patients presenting in infancy.Propionyl-CoA carboxylase - A review.Metabolic etiologies in West syndrome.
P2860
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P2860
Inherited propionyl-Coa carboxylase deficiency in "ketotic hyperglycinemia"
description
1971 nî lūn-bûn
@nan
1971 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1971 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1971年の論文
@ja
1971年論文
@yue
1971年論文
@zh-hant
1971年論文
@zh-hk
1971年論文
@zh-mo
1971年論文
@zh-tw
1971年论文
@wuu
name
Inherited propionyl-Coa carboxylase deficiency in "ketotic hyperglycinemia"
@ast
Inherited propionyl-Coa carboxylase deficiency in "ketotic hyperglycinemia"
@en
Inherited propionyl-Coa carboxylase deficiency in "ketotic hyperglycinemia"
@nl
type
label
Inherited propionyl-Coa carboxylase deficiency in "ketotic hyperglycinemia"
@ast
Inherited propionyl-Coa carboxylase deficiency in "ketotic hyperglycinemia"
@en
Inherited propionyl-Coa carboxylase deficiency in "ketotic hyperglycinemia"
@nl
prefLabel
Inherited propionyl-Coa carboxylase deficiency in "ketotic hyperglycinemia"
@ast
Inherited propionyl-Coa carboxylase deficiency in "ketotic hyperglycinemia"
@en
Inherited propionyl-Coa carboxylase deficiency in "ketotic hyperglycinemia"
@nl
P2093
P2860
P3181
P356
P1476
Inherited propionyl-Coa carboxylase deficiency in "ketotic hyperglycinemia"
@en
P2093
K J Scully
L E Rosenberg
P2860
P304
P3181
P356
10.1172/JCI106466
P407
P577
1971-01-01T00:00:00Z